Variant report

Variant	rs7287937
Chromosome Location	chr22:32020745-32020746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:32012966-32043914..22:32347255-32351014	K562	blood:
2	22:31936958-31958600..22:32012966-32043914	GM12878	blood:
3	22:32012966-32043914..22:32513817-32522138	K562	blood:
4	22:31829733-31836635..22:32012966-32043914	GM12878	blood:
5	22:32012966-32043914..22:32665993-32670527	K562	blood:
6	22:31930706-31935473..22:32012966-32043914	GM12878	blood:
7	22:32012966-32043914..22:32529813-32538538	K562	blood:
8	22:32012966-32043914..22:32846948-32860159	K562	blood:
9	chr22:31982507..31985125-chr22:32018725..32020856,2	MCF-7	breast:
10	22:32012966-32043914..22:32360288-32405313	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232707	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000229169	Chromatin interaction
ENSG00000224050	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000238910	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1018490	0.80[MEX][hapmap]
rs10483159	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs12171042	0.91[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs12484233	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs12484966	0.85[CHB][hapmap]
rs12485176	0.86[CHB][hapmap];0.94[CHD][hapmap]
rs131233	0.86[YRI][hapmap]
rs140078	0.83[MKK][hapmap];0.89[YRI][hapmap]
rs140081	0.83[MKK][hapmap];0.89[YRI][hapmap]
rs1543416	0.82[YRI][hapmap]
rs17821132	0.86[CHB][hapmap]
rs1916	1.00[CEU][hapmap];0.91[TSI][hapmap]
rs2006771	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2012451	0.81[CEU][hapmap]
rs2108108	0.80[MKK][hapmap]
rs2295240	0.81[CHD][hapmap]
rs2295241	1.00[CHB][hapmap]
rs3747155	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs3788434	0.86[CHB][hapmap]
rs3788435	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs3804087	0.82[YRI][hapmap]
rs4820048	0.85[CEU][hapmap];0.82[TSI][hapmap]
rs4820974	0.89[CEU][hapmap];0.80[TSI][hapmap]
rs4820983	0.83[YRI][hapmap]
rs5753686	0.83[YRI][hapmap]
rs5753733	0.83[AFR][1000 genomes]
rs5994420	0.89[YRI][hapmap]
rs5994427	0.81[YRI][hapmap]
rs5997988	0.85[CEU][hapmap];0.84[TSI][hapmap]
rs5998002	1.00[CEU][hapmap];0.81[GIH][hapmap];0.93[TSI][hapmap]
rs5998021	1.00[CEU][hapmap]
rs5998042	0.84[LWK][hapmap];0.86[YRI][hapmap]
rs5998069	0.86[YRI][hapmap]
rs5998086	0.89[YRI][hapmap]
rs6518752	0.96[MEX][hapmap]
rs7285777	0.80[EUR][1000 genomes]
rs7289075	0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs7289941	1.00[CEU][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap]
rs7291918	0.95[LWK][hapmap];0.89[MKK][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs7293134	0.94[CHD][hapmap]
rs760908	0.85[MKK][hapmap];0.89[YRI][hapmap]
rs761746	0.93[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs761747	0.87[AFR][1000 genomes]
rs8140312	0.92[MEX][hapmap]
rs8142376	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9621263	0.86[CHB][hapmap]
rs9621270	0.86[CHB][hapmap]
rs9956	0.98[LWK][hapmap];0.94[MKK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914980	chr22:31966274-32024980	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv517534	chr22:31977594-32024980	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv829176	chr22:31998223-32029556	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv1845516	chr22:32010436-32024552	Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv2830290	chr22:32011225-32057964	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7287937	CRYBB1	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31998600-32022000	Weak transcription	Fetal Kidney	kidney
2	chr22:32003600-32022000	Strong transcription	Dnd41	blood
3	chr22:32008000-32021200	Weak transcription	Fetal Heart	heart
4	chr22:32008000-32022600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr22:32009600-32021800	Strong transcription	Primary T cells from cord blood	blood
6	chr22:32010200-32025600	Genic enhancers	Placenta	Placenta
7	chr22:32012200-32022600	Strong transcription	Thymus	Thymus
8	chr22:32012600-32020800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr22:32012600-32022000	Weak transcription	Psoas Muscle	Psoas
10	chr22:32012600-32024400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr22:32012800-32020800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr22:32012800-32020800	Strong transcription	Lung	lung
13	chr22:32012800-32021400	Weak transcription	Right Atrium	heart
14	chr22:32012800-32021400	Strong transcription	NHLF	lung
15	chr22:32013000-32022200	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr22:32013200-32020800	Weak transcription	Stomach Mucosa	stomach
17	chr22:32013200-32022000	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr22:32013200-32024000	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr22:32013600-32025200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr22:32014000-32025600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr22:32015000-32022000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr22:32015200-32021400	Strong transcription	NHEK	skin
23	chr22:32015200-32021800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr22:32015200-32022000	Weak transcription	Fetal Lung	lung
25	chr22:32015400-32022400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr22:32015400-32025200	Weak transcription	Hela-S3	cervix
27	chr22:32016000-32023600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr22:32016400-32025400	Weak transcription	HSMM	muscle
29	chr22:32016600-32021600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr22:32016600-32022400	Weak transcription	A549	lung
31	chr22:32016600-32025600	Weak transcription	Small Intestine	intestine
32	chr22:32016800-32025600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr22:32017000-32025400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr22:32017400-32021200	Weak transcription	NH-A	brain
35	chr22:32017400-32021600	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr22:32017600-32020800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr22:32017600-32021400	Weak transcription	Ovary	ovary
38	chr22:32017600-32022000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr22:32017600-32025600	Genic enhancers	Spleen	Spleen
40	chr22:32017800-32021400	Weak transcription	Left Ventricle	heart
41	chr22:32017800-32021600	Weak transcription	Colonic Mucosa	Colon
42	chr22:32017800-32022600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr22:32017800-32022800	Weak transcription	Primary B cells from cord blood	blood
44	chr22:32017800-32022800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr22:32018000-32021400	Genic enhancers	Adipose Nuclei	Adipose
46	chr22:32018000-32022400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr22:32018000-32022400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr22:32018000-32025400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr22:32018000-32025600	Weak transcription	Aorta	Aorta
50	chr22:32018200-32021200	Weak transcription	HUVEC	blood vessel

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